title: Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region.
abstract: Diffuse leiomyomatosis (DL) with Alport syndrome (AS) has been shown to be associated with contiguous gene deletions of the COL4A5 and COL4A6 genes, with the COL4A6 breakpoint of the deletions invariably located in the large intron 2 of the gene. We describe four YAC clones covering the locus and a refined restriction map of the entire COL4A6 gene. These resources have allowed us to make a precise estimate of the size of COL4A6 introns 2 and 3, as well as the size of the gene itself. We also describe five novel deletions which, in conjunction with previous reports, allow the definition of a 90-kb critical region in which to search for a gene or other entity involved in the pathogenesis of DL.
authors.affiliation: INSERM U423, Université René Descartes, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: L
authors.initials: L
authors.lastname: Heidet
authors.forename: L
authors.initials: L
authors.lastname: Cohen-Solal
authors.forename: E
authors.initials: E
authors.lastname: Boye
authors.forename: P
authors.initials: P
authors.lastname: Thorner
authors.forename: M J
authors.initials: MJ
authors.lastname: Kemper
authors.forename: A
authors.initials: A
authors.lastname: David
authors.forename: L
authors.initials: L
authors.lastname: Larget Piet
authors.forename: J
authors.initials: J
authors.lastname: Zhou
authors.forename: F
authors.initials: F
authors.lastname: Flinter
authors.forename: X
authors.initials: X
authors.lastname: Zhang
authors.forename: M C
authors.initials: MC
authors.lastname: Gubler
authors.forename: C
authors.initials: C
authors.lastname: Antignac
mesh_terms: D000328:Adult; D018244:Chromosomes, Artificial, Yeast; D003001:Cloning, Molecular; D003094:Collagen / Q000235:genetics*; D017931:DNA Primers; D005091:Exons; D005260:Female; D017353:Gene Deletion; D006801:Humans; D018231:Leiomyomatosis / Q000235:genetics*; D008297:Male; D009394:Nephritis, Hereditary / Q000235:genetics*; D015183:Restriction Mapping
chemical_list: D017931:DNA Primers; D003094:Collagen